I would like to tell you about a boy I am eager to meet. He is about 14 months now and full of life. Instead of spending time in hospitals, he spends his time playing outside with his dogs, Frank and Sam. Instead of being poked and prodded with needles and machines, he gets scrapes and bruises from playing in the playground. Instead of being fed liquids by Gtube, he devours everything in site.
He runs around the house with his diaper on his head and scares his mommy when he climbs onto the kitchen counter. Everyone adores him. He laughs at funny faces and enjoys a good tickle fight. He runs, dances and loves the drums. He laughs with Mickey Mouse, cries when it's time for bed, and loves when his mommy and daddy read to him.
He doesn't need weekly blood test to make sure the medicines and diet isn't damaging his organs. He doesn't have 10 specialists following his case on a weekly basis and he's never been hospitalized 6 times for a minimum of two weeks.
And when he smiles, it's like the whole world is smiling back at you.
SCN8A mutation has kept this boy from me. He suffers from infantile spasms on a daily basis since he was 2 months old. My son is a prisoner to it and I pray everyday for his release. He is waiting for mommy and daddy to save him from his dark prison, but unfortunately we do not have the answers yet. Maybe there will come a day where someone at this amazing gathering will help us to find that answer. Until then, I will continue fighting to save my heart, my soul, my Max.
Dinaely shared these words at The Cute Syndrome Foundation's SCN8A clinician, researcher, patient and family gathering held in Philadelphia on December 5th, 2015